Analysis of a pedigree with autosomal dominant intermediate Charcot-Marie-Tooth disease type E and nephropathy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 918-921, 2019.
Article
ي Zh
| WPRIM
| ID: wpr-776775
المكتبة المسؤولة:
WPRO
ABSTRACT
OBJECTIVE@#To explore phenotypic and mutational characteristics of a pedigree affected with autosomal dominant Charcot-Marie-Tooth disease (CMT) and nephropathy.@*METHODS@#Clinical data of the proband and his family members was collected. Electrophysiology, renal biopsy and next-generation sequencing were carried out for the proband.@*RESULTS@#The proband presented with distal lower limb weakness and proteinuria in childhood. His mother and brother had similar symptoms. Electrophysiological test of the proband revealed demyelination and axonal changes in both motor and sensory nerves. Renal biopsy suggested focal segmental glomerulosclerosis. Genetic testing revealed a heterozygous c.341G>A (p.G114D) mutation in exon 2 of the INF2 gene.@*CONCLUSION@#The phenotypic feature of the pedigree is autosomal dominant intermediate CMT and focal segmental glomerulosclerosis, which may be attributed to the c.341G>A mutation of the INF2 gene.
النص الكامل:
1
الفهرس:
WPRIM
الموضوع الرئيسي:
Pedigree
/
Glomerulosclerosis, Focal Segmental
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Charcot-Marie-Tooth Disease
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Genetics
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Heterozygote
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Microfilament Proteins
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Mutation
المحددات:
Child
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Female
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Humans
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Male
اللغة:
Zh
مجلة:
Chinese Journal of Medical Genetics
السنة:
2019
نوع:
Article